MedlinePlus:33 Tay-sachs disease is a rare, inherited disorder. it causes too much of a fatty substance to build up in the brain. this buildup destroys nerve cells, causing mental and physical problems.
infants with tay-sachs disease appear to develop normally for the first few months of life. then mental and physical abilities decline. the child becomes blind, deaf, and unable to swallow. muscles begin to waste away and paralysis sets in. even with the best of care, children with tay-sachs disease usually die by age 4.
the cause is a gene mutation which is most common in eastern european ashkenazi jews. to get the disease, both parents must have the gene. if they do, there is a 25% chance of the child having the disease. a blood test and prenatal tests can check for the gene or the disease.
there is no cure. medicines and good nutrition can help some symptoms. some children need feeding tubes.
nih: national institute of neurological disorders and stroke

Genetics Home Reference:22 Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases:42 Gangliosidosis (gm2) type 1, also known as tay-sachs disease, is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. tay-sachs is caused by the absence of a vital enzyme called hexosaminidase-a (hex-a). without hex-a, a fatty substance, or lipid, called gm2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. this ongoing accumulation causes progressive damage to the cells.
last updated: 8/14/2012

NINDS:43 Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called that catalyzes the biodegradation of acidic fatty materials known as . Gangliosides are made and biodegraded rapidly in early life as the brain develops.

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. (8044648)

Akli S.... Vanier M.T.

1993

19

beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. (8328462)

Brown C.A.... Mahuran D.J.

1993

20

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. (1301958)

Shore S.... Myerowitz R.

1992

21

A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. (1415222)

Ainsworth P.J.... Coulter-Mackie M.B.

1992

22

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. (2141777)

NAKANO T.... Suzuki K.

1990

23

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. (2848800)

Myerowitz R.... Costigan F.C.

1988

24

A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. (2954459)

Zokaeem G.... Neufeld E.F.

1987

25

Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. (2959149)

Bayleran J.... Kaback M.

1987

26

Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source. (6234430)

Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. (4336274)

Clausen J.... Paerregaard P.

1972

41

Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. (5567894)

Eto Y.... Suzuki K.

1971

42

Serum aldolase in Tay-Sachs disease and in fructose intolerance. (5129546)